ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.3665A>G (p.Tyr1222Cys) (rs748819463)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000616540 SCV000895155 uncertain significance not specified 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000616540 SCV000712284 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing The p.Tyr1222Cys variant in MYOM1 has not been previously reported in individual s with cardiomyopathy, but has been identified in 9/8514 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs748819463). Computational prediction tools and conservation analysis suggest that the p.Tyr1222Cys variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Tyr1222Cys variant is uncertain.

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